Results 11 to 20 of about 355,663 (359)
Tuberculoma of the Nasal Septum [PDF]
The American Journal of the Medical Sciences, 1907 n ...
A. Onódi
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Deflection of the Nasal Septum [PDF]
The American Journal of the Medical Sciences, 1902 n ...
NULL AUTHOR_ID
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Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023 Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin +47 more
wiley +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
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American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023 Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker +9 more
wiley +1 more source
The Neuroradiology Journal, 2020 The nasal cavities are complex anatomical structures with high inter-individual variability that relates to different functions. Different anatomic variants may manifest at this site, mainly belonging to the nasal septum and turbinates. Precise knowledge
M. Cellina +5 more
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The molecular genetics of RASopathies: An update on novel disease genes and new disorders
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022 Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia +2 more
wiley +1 more source
International Forum of Allergy &Rhinology, Volume 13, Issue 1, Page 31-41, January 2023., 2023 Abstract Background Sinus surgery removes inflamed tissue, restores airflow, and improves delivery of medication into surgically opened spaces. The exhalation delivery system with fluticasone (EDS‐FLU; XHANCE®) uses a novel delivery system to create closed‐palate, positive‐pressure, bidirectional mechanics that significantly alter the deposition of the
Randall A. Ow +6 more
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